26033[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 152078	GRCh38/hg38 7q22.2-22.3(chr7:104434729-106134635)x3	ATXN7L1, CDHR3 +71 more	Copy number gain	See cases	GUncertain significance
Select item 152225	GRCh38/hg38 7q22.3(chr7:105185747-105512369)x1	LOC129999076, LOC129999077 +11 more	Copy number loss	See cases	GUncertain significance
Select item 3037449	NM_019042.5(PUS7):c.*5T>C	PUS7	Single nucleotide variant (3 prime UTR variant)	PUS7-related disorder	GBenign
Select item 3068188	NM_019042.5(PUS7):c.1984T>C (p.Ter662Arg)	PUS7	Single nucleotide variant (stop lost)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GUncertain significance
Select item 2402135	NM_019042.5(PUS7):c.1982G>A (p.Arg661His)	PUS7 (R661H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510084	NM_019042.5(PUS7):c.1958C>T (p.Thr653Met)	PUS7 (T659M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1329591	NM_019042.5(PUS7):c.1935G>A (p.Met645Ile)	PUS7 (M645I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098369	NM_019042.5(PUS7):c.1774del (p.Asp592fs)	PUS7 (D592fs +1 more)	Deletion (frameshift variant)	See cases	GPathogenic
Select item 2465263	NM_019042.5(PUS7):c.1769C>T (p.Ala590Val)	PUS7 (A596V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149853	NM_019042.5(PUS7):c.1651C>A (p.Leu551Ile)	PUS7 (L557I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252720	NM_019042.5(PUS7):c.1631A>G (p.Gln544Arg)	PUS7 (Q544R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574508	NM_019042.5(PUS7):c.1597G>A (p.Gly533Ser)	PUS7 (G533S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 619233	NM_019042.5(PUS7):c.1507G>T (p.Asp503Tyr)	PUS7 (D503Y +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature +1 more	GPathogenic/Likely pathogenic
Select item 2526831	NM_019042.5(PUS7):c.1481A>G (p.Asp494Gly)	PUS7 (D500G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273534	NM_019042.5(PUS7):c.1467C>A (p.Ser489Arg)	PUS7 (S495R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311743	NM_019042.5(PUS7):c.1420A>G (p.Met474Val)	PUS7 (M474V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311744	NM_019042.5(PUS7):c.1405A>G (p.Arg469Gly)	PUS7 (R469G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785229	NM_019042.5(PUS7):c.1389A>G (p.Ala463=)	PUS7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1184593	NM_019042.5(PUS7):c.1385_1386del (p.Ser462fs)	PUS7 (S462fs +1 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 619231	NM_019042.5(PUS7):c.1348C>T (p.Arg450Ter)	PUS7 (R450* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GPathogenic
Select item 2245420	NM_019042.5(PUS7):c.1316C>T (p.Pro439Leu)	PUS7 (P439L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033867	NM_019042.5(PUS7):c.1314A>G (p.Leu438=)	PUS7	Single nucleotide variant (synonymous variant)	PUS7-related disorder	GBenign
Select item 2393508	NM_019042.5(PUS7):c.1263C>G (p.Cys421Trp)	PUS7 (C421W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319363	NM_019042.5(PUS7):c.1199C>T (p.Thr400Ile)	PUS7 (T406I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431797	NM_019042.5(PUS7):c.1196G>A (p.Trp399Ter)	PUS7 (W399* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 804242	NM_019042.5(PUS7):c.1160C>T (p.Thr387Met)	PUS7 (T387M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 715610	NM_019042.5(PUS7):c.1155C>A (p.Val385=)	PUS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3258110	NM_019042.5(PUS7):c.1121A>C (p.Tyr374Ser)	PUS7 (Y380S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 1028136	NM_019042.5(PUS7):c.1121A>T (p.Tyr374Phe)	PUS7 (Y374F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GUncertain significance
Select item 3149850	NM_019042.5(PUS7):c.1106T>C (p.Ile369Thr)	PUS7 (I369T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1802167	NM_019042.5(PUS7):c.1097_1098del (p.Leu366fs)	PUS7 (L366fs +1 more)	Microsatellite (frameshift variant)	Pervasive developmental disorder +1 more	GPathogenic
Select item 2260669	NM_019042.5(PUS7):c.1073A>G (p.Gln358Arg)	PUS7 (Q364R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050135	NM_019042.5(PUS7):c.1050-7C>G	PUS7	Single nucleotide variant (intron variant)	PUS7-related disorder	GBenign
Select item 2657916	NM_019042.5(PUS7):c.1008A>G (p.Lys336=)	PUS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676078	NM_019042.5(PUS7):c.965_966dup (p.Phe323fs)	PUS7 (F323fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3149860	NM_019042.5(PUS7):c.963G>A (p.Met321Ile)	PUS7 (M321I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041284	NM_019042.5(PUS7):c.921-5dup	PUS7	Duplication (intron variant)	PUS7-related disorder	GBenign
Select item 3056086	NM_019042.5(PUS7):c.921-6_921-5del	PUS7	Deletion (intron variant)	PUS7-related disorder	GLikely benign
Select item 3046904	NM_019042.5(PUS7):c.921-7_921-5del	PUS7	Deletion (intron variant)	PUS7-related disorder	GLikely benign
Select item 1303121	NM_019042.5(PUS7):c.921-5del	PUS7	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1703495	NM_019042.5(PUS7):c.920+5G>A	PUS7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2501667	NM_019042.5(PUS7):c.843-1G>A	PUS7	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 1327922	NM_019042.5(PUS7):c.842+44A>G	PUS7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3040770	NM_019042.5(PUS7):c.816T>C (p.Ala272=)	PUS7	Single nucleotide variant (synonymous variant)	PUS7-related disorder	GLikely benign
Select item 1805902	NM_019042.5(PUS7):c.805A>G (p.Thr269Ala)	PUS7 (T269A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GUncertain significance
Select item 1705139	NM_019042.5(PUS7):c.788A>C (p.Tyr263Ser)	PUS7 (Y263S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547686	NM_019042.5(PUS7):c.781G>T (p.Val261Leu)	PUS7 (V267L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149859	NM_019042.5(PUS7):c.779T>G (p.Phe260Cys)	PUS7 (F260C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1309926	NM_019042.5(PUS7):c.761G>A (p.Arg254Lys)	PUS7 (R254K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2332198	NM_019042.5(PUS7):c.741A>C (p.Lys247Asn)	PUS7 (K253N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308513	NM_019042.5(PUS7):c.733C>T (p.Pro245Ser)	PUS7 (P245S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149858	NM_019042.5(PUS7):c.706G>A (p.Ala236Thr)	PUS7 (A236T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3367106	NM_019042.5(PUS7):c.702C>A (p.Tyr234Ter)	PUS7 (Y234*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 2391573	NM_019042.5(PUS7):c.689A>G (p.Tyr230Cys)	PUS7 (Y230C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1065428	NM_019042.5(PUS7):c.640_641del (p.Leu214fs)	PUS7 (L214fs)	Microsatellite (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 1327923	NM_019042.5(PUS7):c.585+43G>C	PUS7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2363841	NM_019042.5(PUS7):c.538G>A (p.Glu180Lys)	PUS7 (E180K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3149857	NM_019042.5(PUS7):c.533G>T (p.Arg178Leu)	PUS7 (R178L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258111	NM_019042.5(PUS7):c.532C>T (p.Arg178Ter)	PUS7 (R178*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GPathogenic
Select item 3149856	NM_019042.5(PUS7):c.514A>G (p.Thr172Ala)	PUS7 (T172A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386058	NM_019042.5(PUS7):c.499A>G (p.Ile167Val)	PUS7 (I167V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2525291	NM_019042.5(PUS7):c.494A>G (p.Glu165Gly)	PUS7 (E165G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149855	NM_019042.5(PUS7):c.488C>T (p.Pro163Leu)	PUS7 (P163L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327924	NM_019042.5(PUS7):c.483+42dup	PUS7	Duplication (intron variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GBenign
Select item 810170	NM_019042.5(PUS7):c.483+1G>A	PUS7	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1695207	NM_019042.5(PUS7):c.411C>T (p.Phe137=)	PUS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1202679	NM_019042.5(PUS7):c.406G>A (p.Asp136Asn)	PUS7 (D136N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2508056	NM_019042.5(PUS7):c.403T>G (p.Ser135Ala)	PUS7 (S135A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature +1 more	GConflicting classifications of pathogenicity
Select item 804243	NM_019042.5(PUS7):c.398+1G>T	PUS7	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature +1 more	GConflicting classifications of pathogenicity
Select item 2227934	NM_019042.5(PUS7):c.393_397del (p.Glu132fs)	PUS7 (E132fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2493879	NM_019042.5(PUS7):c.383G>C (p.Gly128Ala)	PUS7 (G128A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038250	NM_019042.5(PUS7):c.367C>T (p.His123Tyr)	PUS7 (H123Y)	Single nucleotide variant (missense variant)	PUS7-related disorder	GBenign
Select item 619234	NM_019042.5(PUS7):c.329_332del (p.Thr110fs)	PUS7 (T110fs)	Deletion (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GPathogenic
Select item 3362571	NM_019042.5(PUS7):c.329_331del (p.Thr110_Glu111delinsLys)	PUS7	Deletion (inframe_indel)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GUncertain significance
Select item 2657917	NM_019042.5(PUS7):c.330T>C (p.Thr110=)	PUS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1329600	NM_019042.5(PUS7):c.310A>G (p.Met104Val)	PUS7 (M104V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431821	NM_019042.5(PUS7):c.303del (p.Phe101fs)	PUS7 (F101fs)	Deletion (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 1065429	NM_019042.5(PUS7):c.298_299del (p.Ser100fs)	PUS7 (S100fs)	Microsatellite (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 2579027	NM_019042.5(PUS7):c.277T>C (p.Cys93Arg)	PUS7 (C93R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3149854	NM_019042.5(PUS7):c.265C>A (p.Leu89Ile)	PUS7 (L89I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215579	NM_019042.5(PUS7):c.227C>G (p.Ala76Gly)	PUS7 (A76G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657918	NM_019042.5(PUS7):c.213A>C (p.Gly71=)	PUS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676079	NM_019042.5(PUS7):c.171C>T (p.Asp57=)	PUS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3040846	NM_019042.5(PUS7):c.165T>C (p.Ser55=)	PUS7	Single nucleotide variant (synonymous variant)	PUS7-related disorder	GLikely benign
Select item 2510781	NM_019042.5(PUS7):c.151T>C (p.Phe51Leu)	PUS7 (F51L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378547	NM_019042.5(PUS7):c.140T>G (p.Leu47Arg)	PUS7 (L47R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542801	NM_019042.5(PUS7):c.136G>A (p.Gly46Arg)	PUS7 (G46R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404479	NM_019042.5(PUS7):c.125A>G (p.Lys42Arg)	PUS7 (K42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149851	NM_019042.5(PUS7):c.116G>T (p.Ser39Ile)	PUS7 (S39I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 807478	NM_019042.5(PUS7):c.99_100del (p.Lys34fs)	PUS7 (K34fs)	Deletion (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 619230	NM_019042.5(PUS7):c.89_90del (p.Thr30fs)	PUS7 (T30fs)	Deletion (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GPathogenic
Select item 2336731	NM_019042.5(PUS7):c.61A>G (p.Asn21Asp)	PUS7 (N21D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657919	NM_019042.5(PUS7):c.31C>T (p.Leu11=)	PUS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3245924	NC_000007.13:g.(?_104456677)_(105207758_?)del	KMT2E, LHFPL3 +3 more	Deletion	not provided	GPathogenic
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	ATXN7L1, BCAP29 +29 more	Deletion	not provided	GPathogenic

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